Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02302:Gabbr1'

287392

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gabbr1

Ensembl Gene

ENSMUSG00000024462

Gene Name

gamma-aminobutyric acid (GABA) B receptor, 1

Synonyms

GABAB1, GABAbR1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

IGL02302

Quality Score

Status

Chromosome

Chromosomal Location

37045966-37075067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37054797 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 123 (R123W)

Ref Sequence

ENSEMBL: ENSMUSP00000134346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025338] [ENSMUST00000172792] [ENSMUST00000173823] [ENSMUST00000174347]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025338
AA Change: R284W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: R284W

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CCP	29	95	8.72e0	SMART
CCP	99	156	3.03e-10	SMART
Pfam:Peripla_BP_6	168	538	1.6e-23	PFAM
Pfam:ANF_receptor	186	542	4.3e-73	PFAM
Pfam:7tm_3	602	858	9.8e-49	PFAM
coiled coil region	877	922	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172792
AA Change: R168W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: R168W

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	30	51	N/A	INTRINSIC
Pfam:Peripla_BP_6	52	428	7.8e-24	PFAM
Pfam:ANF_receptor	70	426	5.7e-68	PFAM
Pfam:7tm_3	484	743	1.1e-50	PFAM
coiled coil region	761	806	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173564

Predicted Effect

probably benign
Transcript: ENSMUST00000173823

SMART Domains

Protein: ENSMUSP00000133797
Gene: ENSMUSG00000024462

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sushi	29	95	1.6e-6	PFAM
low complexity region	159	176	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174347
AA Change: R123W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462
AA Change: R123W

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	30	51	N/A	INTRINSIC
Pfam:ANF_receptor	102	213	1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174866

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
PHENOTYPE: Phenotypes of null mice vary depending on strain background and allele. Homozygous null mice may display seizures, premature death, and abnormal nervous system electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,383,098	Q211L	possibly damaging	Het
2210016F16Rik	G	A	13: 58,381,935	R288W	probably damaging	Het
Abca14	T	A	7: 120,318,745		probably benign	Het
Abcb10	A	T	8: 123,958,672	V543D	possibly damaging	Het
Ankrd17	G	A	5: 90,283,198	T909I	probably benign	Het
Arhgef3	A	G	14: 27,362,842	N76S	probably benign	Het
Bbx	A	T	16: 50,224,915	C320S	probably damaging	Het
Cdh23	C	A	10: 60,323,523	V2159F	possibly damaging	Het
Cmtr2	G	A	8: 110,221,504	A149T	probably damaging	Het
Cntnap4	A	G	8: 112,785,903		probably benign	Het
Col6a3	A	T	1: 90,781,760	F1905I	unknown	Het
Ddx60	A	G	8: 61,975,832	Y792C	possibly damaging	Het
Dock4	T	C	12: 40,725,777	L573P	probably damaging	Het
Dopey2	A	G	16: 93,810,117	I2103V	probably benign	Het
Ear1	T	G	14: 43,819,047	Q121H	probably benign	Het
Eprs	T	A	1: 185,387,124		probably benign	Het
Ero1l	T	C	14: 45,293,162	K271R	probably benign	Het
Esyt1	A	G	10: 128,512,367	L884P	probably damaging	Het
F2r	T	C	13: 95,604,652	N125S	probably damaging	Het
Fam129b	A	G	2: 32,921,123	I382V	probably benign	Het
Fam217a	T	C	13: 34,911,161	E357G	probably damaging	Het
Gatsl2	G	A	5: 134,135,643	V148I	possibly damaging	Het
Gimap4	T	G	6: 48,690,413	V34G	probably damaging	Het
Gm3248	A	T	14: 5,943,011	V180E	probably benign	Het
Hecw2	A	T	1: 53,933,248	N204K	probably damaging	Het
Ighv1-84	T	A	12: 115,980,929	K42*	probably null	Het
Kcnh7	T	A	2: 62,706,058	Q1060L	probably damaging	Het
Kif3b	T	A	2: 153,316,948	I223N	probably damaging	Het
Lama2	G	A	10: 27,212,043	P913S	probably benign	Het
Lgr4	A	G	2: 110,002,496	I334M	probably damaging	Het
Lrrc45	G	T	11: 120,718,525	E403D	possibly damaging	Het
Mccc2	A	G	13: 99,954,239	L462P	probably damaging	Het
Mfsd13b	T	C	7: 120,998,909	V346A	probably damaging	Het
Muc6	T	C	7: 141,641,496	T1342A	possibly damaging	Het
Mxd3	T	C	13: 55,329,278	N56S	probably benign	Het
Ntn5	G	T	7: 45,694,248	R337L	probably damaging	Het
Nynrin	A	G	14: 55,868,505	K894E	probably benign	Het
Olfr1305	A	C	2: 111,873,542	S104R	possibly damaging	Het
Olfr350	G	T	2: 36,850,703	G219V	probably benign	Het
Olfr447	T	A	6: 42,912,338	Y272N	probably damaging	Het
Olfr859	A	T	9: 19,808,685	R122S	probably damaging	Het
Pappa2	T	C	1: 158,715,001	D1772G	probably benign	Het
Pcdh18	G	T	3: 49,755,938	F309L	probably benign	Het
Pcdhac2	G	T	18: 37,145,953	R662L	probably damaging	Het
Ppp5c	G	A	7: 17,008,630	S261L	possibly damaging	Het
Rc3h1	T	C	1: 160,938,105		probably benign	Het
Rfx8	A	C	1: 39,665,522	S578A	possibly damaging	Het
Rhbdl3	T	G	11: 80,353,681	*405E	probably null	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rnf139	G	T	15: 58,898,757	L210F	probably damaging	Het
Rragc	A	G	4: 123,921,086	R192G	possibly damaging	Het
Ryr3	A	T	2: 112,964,356	V137E	probably damaging	Het
S100pbp	A	T	4: 129,182,441	D30E	probably damaging	Het
Smchd1	A	T	17: 71,358,133		probably benign	Het
Sppl3	T	A	5: 115,082,331	C101S	probably benign	Het
St5	A	G	7: 109,525,331	V1101A	probably damaging	Het
St8sia6	T	C	2: 13,723,513	T74A	probably benign	Het
Sult3a1	A	G	10: 33,866,575	N66S	possibly damaging	Het
Sv2b	T	A	7: 75,124,199	K508M	probably damaging	Het
Terf1	T	C	1: 15,833,402	S275P	probably damaging	Het
Tmed8	G	T	12: 87,174,216	H199N	probably damaging	Het
Tubg2	A	T	11: 101,156,145	Q9L	probably damaging	Het
Ubxn4	C	T	1: 128,256,111		probably benign	Het
Usp34	C	T	11: 23,467,243	T2964I	possibly damaging	Het
Zfp213	A	G	17: 23,557,971	S366P	possibly damaging	Het

Other mutations in Gabbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Gabbr1	APN	17	37048443	nonsense	probably null
IGL01309:Gabbr1	APN	17	37048607	critical splice donor site	probably null
IGL01413:Gabbr1	APN	17	37062706	missense	possibly damaging	0.93
IGL01568:Gabbr1	APN	17	37070669	missense	probably damaging	1.00
IGL01845:Gabbr1	APN	17	37048414	splice site	probably benign
IGL02083:Gabbr1	APN	17	37070065	missense	possibly damaging	0.84
IGL02430:Gabbr1	APN	17	37056308	nonsense	probably null
IGL02533:Gabbr1	APN	17	37072147	missense	probably damaging	1.00
IGL02810:Gabbr1	APN	17	37062762	missense	probably damaging	1.00
H8562:Gabbr1	UTSW	17	37071949	missense	probably damaging	1.00
PIT4449001:Gabbr1	UTSW	17	37056350	missense	probably damaging	1.00
R0025:Gabbr1	UTSW	17	37067210	intron	probably benign
R0420:Gabbr1	UTSW	17	37046762	missense	possibly damaging	0.68
R0464:Gabbr1	UTSW	17	37050834	unclassified	probably benign
R1306:Gabbr1	UTSW	17	37055990	intron	probably null
R1412:Gabbr1	UTSW	17	37054913	splice site	probably null
R1495:Gabbr1	UTSW	17	37055940	missense	possibly damaging	0.68
R1612:Gabbr1	UTSW	17	37070669	missense	probably damaging	1.00
R1658:Gabbr1	UTSW	17	37047507	missense	probably damaging	0.96
R1763:Gabbr1	UTSW	17	37054767	missense	probably damaging	1.00
R1779:Gabbr1	UTSW	17	37054879	missense	probably damaging	1.00
R1964:Gabbr1	UTSW	17	37048459	missense	probably damaging	1.00
R1996:Gabbr1	UTSW	17	37069220	missense	probably damaging	1.00
R2014:Gabbr1	UTSW	17	37056782	splice site	probably null
R2255:Gabbr1	UTSW	17	37071866	missense	probably damaging	1.00
R4299:Gabbr1	UTSW	17	37055900	nonsense	probably null
R4458:Gabbr1	UTSW	17	37067775	critical splice acceptor site	probably null
R4510:Gabbr1	UTSW	17	37069211	missense	probably damaging	1.00
R4511:Gabbr1	UTSW	17	37069211	missense	probably damaging	1.00
R4571:Gabbr1	UTSW	17	37054236	nonsense	probably null
R4597:Gabbr1	UTSW	17	37056899	missense	possibly damaging	0.74
R5109:Gabbr1	UTSW	17	37072028	intron	probably benign
R5119:Gabbr1	UTSW	17	37048438	missense	probably damaging	0.99
R5227:Gabbr1	UTSW	17	37070066	missense	possibly damaging	0.93
R5253:Gabbr1	UTSW	17	37055913	missense	possibly damaging	0.87
R5443:Gabbr1	UTSW	17	37070756	missense	probably damaging	1.00
R5485:Gabbr1	UTSW	17	37056875	missense	possibly damaging	0.83
R5839:Gabbr1	UTSW	17	37067868	missense	probably damaging	1.00
R5976:Gabbr1	UTSW	17	37067862	missense	probably damaging	1.00
R6156:Gabbr1	UTSW	17	37048427	missense	probably benign	0.01
R6167:Gabbr1	UTSW	17	37063379	missense	probably damaging	1.00
R6214:Gabbr1	UTSW	17	37069365	missense	probably damaging	1.00
R6215:Gabbr1	UTSW	17	37069365	missense	probably damaging	1.00
R6348:Gabbr1	UTSW	17	37056899	missense	possibly damaging	0.94
R6721:Gabbr1	UTSW	17	37054192	missense	probably damaging	0.98
R7028:Gabbr1	UTSW	17	37064737	nonsense	probably null
R7317:Gabbr1	UTSW	17	37069413	missense	probably damaging	1.00
X0010:Gabbr1	UTSW	17	37070780	missense	probably damaging	0.99

Posted On

2015-04-16